Objective To analyze the ABCD1 gene mutations in 5 cases of X-linked adrenoleukodystrophy(X-ALD) patients and 2 cases of their mothers.Methods Of 5 patients with X-ALD,10 exons and flanking intronic sequences of ABCD1 gene were amplified by polyme-rase chain reaction,and then sequenced directly.The outcomes were compared with normal ABCD1 sequencings to identify the mutation type and site.Thirty normal men were examined in the mean time as control for the confirmation of mutations and gene polymorphisms.Results Three patients showed ABCD1 gene mutations,1 had a point mutation in exon 6,Arg518Gly(CGG→GGG);2 patients showed the same novel mutation in exon 1 with 8 bases deletion(134del8).Four gene polymorphisms were identified in exon 7.They were Gly551X(GGC→GGT),Arg554His(CGT→CAT),Gln567Arg(CAA→CGA) and Val582Ile(GTC→ATC).ABCD1 gene mutation was not found in 2 mothers from 2 unrelated fa-milies with X-ALD.Conclusions Three cases of 5 were detected for ABCD1 gene mutations.Between them,the 134del8 mutation is a novel one.Four new gene polymorphisms were detected in exon 7 in normal Chinese people,which were Gly551X,Arg554His,Gln567Arg and Val582Ile.

21 mmHg.The side effects,IOP and application of anti-glaucoma drugs were examined 1 h,1 d,1 week,1 month,3 months and 6 months after SLT. Results The IOP was significantly decreased 1 week,1 month,3 months and 6 months after SLT compared with that before treatment(P21 mmHg using two anti-glaucoma drugs,respectively. Conclusion SLT is a safe and effective method for IOP control in early CPACG after treatment with laser peripheral iridoplasty and laser iridectomy.

Objective To evaluate the therapeutic effects of needling revision with mitomycin C(MMC) subconjuctival injection on early failed filtering blebs after trabeculectomy for glaucoma. Methods Needling revision with MMC 0.2 mL(0.04 mg) subconjuctival injection was performed on 86 eyes of 76 patients with failed filtering blebs 2 to 6 weeks after trabeculectomy for glaucoma.An average of 1.88 times of treatment was performed.The intraocular pressure(IOP),blebs and side effects were observed,and follow-up was conducted for 6 months. Results Two to six weeks after trabeculectomy,there were 50 eyes with thickened and focalized blebs,32 eyes with encapsulated blebs and 4 eyes with no bleb.Six months after needling revision with MMC subconjuctival injection,blebs of 61 eyes turned into functional ones.The blebs were thinned and multicysted in 24 eyes,diffused and elevated in 37 eyes,thickened and focalized in 6 eyes,encapsulated in 13 eyes and disappeared in 6 eyes.Three months after treatment,the mean IOP was(15.2?6.1) mmHg,and there were 57 eyes with IOP

Objective:To generate rabbit-anti B16 melanocyte polyclonal antibodies and study the effect on melanocyte proliferation.Methods:Rabbits was immunized with B16 melanocytes to produce rabbit anti-B16 melanocyte polyclonal antibody(pAb).The titer of the antiserum was then detected using the tube agglutination assay;The antiserum was purified through the G protein affinity chromatograph,and the molecular weight of the purified Ab was identifed through SDS-PAGE.The effect of purified IgG on B16 melanocytes proliferation was detected using MTT assay.Results:The titer of the antiserum reaches 1∶1 280;SDS-PAGE shows that the heavy chain molecular weight of the purified IgG is 66.2 kD;MTT assay shows that the IgG fraction inhibited the proliferation of B16 melanocytes with signifancent difference when compared to none IgG or no purified antiserum.Conclusion:The rabbit anti-B16 melanocytes pAb with high titer is preparated successfully.The purified IgG can inhibit proliferation of B16 melanocytes.It could be useful in studying the effect of this antibody on melanocyte growth and pigment metabolism,it also be useful in studying the pathogenesis of vitiligo.

Objective To explore relevant factors of hyperthyroidism with periodic paralysis of hypokalemic (TPP).Methods The clinical data of 112 cased with hyperthyroidism complicated periodic paralysis of hypokalemic were retrospectively analyzed and to analyze the relevant factors. Results Compared to control group, the hyperthyroidism with periodic paralysis group had no obvious differences in general factors ( P ＞ 0. 05 ), but had obvious difference in Gender( P ＜0. 05 ) ;Compared to control group, the hyperthyroidism with periodic paralysis group had obvious differences in induction factors(P ＜ 0. 05);Compared to recurrent group, the incipient group had no obvious differences in several factors( P ＞0. 05) ,but had obvious difference in hyperthyroidism medical history over one year( P ＜0. 05) ; Hyperthyroidism with periodic paralysis was strongly associated with hypokalemia, age, gender, tiredness, getting a cold, satiation and hyperthyroidism genetic history ( P ＜ 0. 01 ). Conclusion The relevant factors of hyperthyroidism with periodic paralysis were hypokalemia, gender, tiredness, getting a cold, intemperance, satiation and hyperthyroidism medical history.

Objective To evaluate the effect of group cooperative learning on the experimental teaching of obstetrics and gynecology nursing.Methods We chose 113 undergraduate nursing students,using the traditional self-learning mode in the experimental teaching of cleaning and disinfection of the vulva and the group cooperative learning mode in the experimental teaching of vaginal douching.Their practical manipulations of the nursing skills by the two teaching modes were compared.A self-designed questionnaire was adopted to investigate the student's attitude to the group cooperative learning.Results The examination achievement by the group cooperative learning was better than that by the traditional self-learning,(Z=-4.986,P<0.001).89.4%of the students approved of the group cooperative learning.Conclusion The group cooperative learning may improve the effects of experimental training,contribute to the cooperative spirits of students,and also make full use of the human resources in teaching.

Objective To explore the application value of noninvasive positive pressure ventilation for acute left heart failure. Methods 86 patients with acute left heart failure were selected and randomly divided into study group and control group,43 patients in each group. Two groups of patients after diagnosis,the control group were treated with conventional treatment, while patients in the study group were given breathing machine with noninvasive positive pressure ventilation treatment. Results Compared with control group,the efficiency and total effective rate in the study group were significantly increased, but the ineffictive rate significantly lower, there were significant differences (P<0. 05). At the same time,patients in the study group,HR and RR were significantly decreased,while PaO2 and SaO2 treatment were significantly higher, there were significant differences (P < 0. 05). Conclusion Use of noninvasive positive pressure ventilation for acute left heart failure,its effects were positive,significant effect on the treatment of acute left heart failure is of great clinical value.

Objective To evaluate the adaption,effectiveness,dose,complication of the treatment for cranio pharygiomas with gamma knife surgery.Methods Gamma knife surgery was performed in 41 patients.Patients with mixed solid and cystic tumors were treated with stereotaxic aspiration while six cases were treated with divergence surgery prior to gamma knife therapy.The central dose ranges from 17.1 ～40 Gy(29.6Gy in average).The patients were treated at 30%～50% equal dose curve with 6 ～14Gy of tumormargin dose(9.5Gy in average).The exposure dose of the optic nerve and optic tract is less than 10Gy.Results Of twenty-nine patients who were followed up from 6 to 100 months,sixteen had disappeared or decreased tumor,six had unchanged,two was performed craniotomy one year or three years after gamma knife surgery,and the remaining five were dead one year to three years.The tumor control rate was 75.9%(22/29).Conclusion The treatment of stereotaxic radiation with single and high dose is sensitive to most of the solid craniopharyngioma,and the treatment of stereotaxic resection combined with gamma knife surgery may be feasible for the recurrent mixed solid and cystic craniopharyngioma.

With the rapid development of medical imaging technique, iodinated contrast media (IOCM) has become the most commonly used agent in performing imaging diagnosis and interventional therapy. The use of IOCM, especially the use of non-ionic iodine contrast media, has been swiftly increased in recent years. The accompanying untoward reactions, such as allergic reactions, cardiovascular reactions, contrast media nephropathy, thyroid toxicity, etc. prove to be the new problems that greatly perplex the medical circle. With the continuous improvement of the knowledge to the untoward reactions, more and more physicians have paid attention to contrast media induced thyroid toxicity. At present, researches concerning iodine contrast media thyroid toxicity are still few, and the relevant research is particularly rare in China. This paper aims to make a review about the influence of different kinds of iodine contrast media on thyroid function.

Objective To understand the changes of positive rates of IHA detections of outpatients in schistosomiasis clinic. Results The data of IHA detections of outpatients in schistosomiasis clinic in Hubei Provincial Center for Disease Control and Prevention were collected and analyzed statistically from 2005 to 2014. Results A total of 7 113 outpatients were detected by IHA test,and 547 of them were positives with a positive rate of 7.69%. The positive rate of IHA test was on an upward slope be?fore 2008,and the rate reached 14.85% in 2008,which was significantly higher than that in 2005(5.81%)( χ2 = 47.40,P<0.01),then it was on a declined stage after 2008,and the positive rate decreased to 3.76 in 2014,which was significantly lower than that in 2008( χ2 = 12.29,P<0.01). The positive rate of outpatients in the 10~<30 years age group was higher than those in other age groups(all P < 0.012 5),and the male positives were more than the female ones. Conclusions The schisto?somiasis endemic situation has been significantly decreased in Hubei Province. The male and people in 10~<30 age group are the high risk groups,so the targeted health education should be strengthened.